H00071 | |
H number | H00071 |
Name | Hereditary fructose intolerance; Fructosemia |
Description | Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney. Aldolase is the enzyme that converts fructose 6P (a six-carbon compound) to glycerone-P and glyceraldehyde-3P (two three-carbon compounds). |
Category | Inherited metabolic disorder |
Network | - |
Gene | ALDOB; aldolase B [HSA:229] [KO:K01623] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C51.50 ICD-10: E74.1 MeSH: D005633 OMIM: 229600 |
Reference | PMID:16086449 AUTHORS Wong D TITLE Hereditary fructose intolerance. JOURNAL Mol Genet Metab 85:165-7 (2005) DOI:10.1016/j.ymgme.2005.05.001 PMID:9610797 AUTHORS Ali M, Rellos P, Cox TM TITLE Hereditary fructose intolerance. JOURNAL J Med Genet 35:353-65 (1998) DOI:10.1136/jmg.35.5.353 |